|
Uncombable hair syndrome
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children.
|
27866708 |
2016 |
|
Uncombable hair syndrome
|
0.310 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Dermatitis, Atopic
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
|
23886662 |
2013 |
|
Curly hair (finding)
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Uncombable hair
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Pili canaliculi
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
UNCOMBABLE HAIR SYNDROME 3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
UNCOMBABLE HAIR SYNDROME 3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Triple hit lymphoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The designation high-grade B-cell lymphoma (HGBL) has been incorporated into the 2016 Revision of the WHO classification of lymphoid neoplasms and includes two types: (1) HGBL, not otherwise specified; and (2) HGBL with MYC and BCL2 and/or BCL6 rearrangements, also known as double or triple hit lymphoma (DHL/THL).
|
29989509 |
2018 |
|
Triple hit lymphoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Cohorts were defined by the presence (+) or absence (-) of rearrangements: MYC+/BCL2+/BCL6- (BCL2-DHL), MYC+/BCL2-/BCL6+ (BCL6-DHL), and MYC+/BCL2+/BCL6+ (triple-hit lymphoma; THL).
|
26565895 |
2016 |
|
Lymphoma
|
0.020 |
Biomarker
|
group |
BEFREE |
These findings suggest that co-inhibition of MYC and BCL2 signaling is a promising therapeutic strategy for patients with DHL/THL lymphomas.
|
25916698 |
2015 |
|
Lymphoma
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Double-hit or triple-hit B-cell lymphomas (DHL and THL) are rare subtype lymphomas usually associated with poor prognosis.
|
23573328 |
2013 |
|
Fatigue
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Tibetan medicine Triphala （THL）is a traditional national medicine, it plays a good role in anti-fatigue, antioxidation, prevention and treatment of polycythemia at high altitude.
|
31813891 |
2020 |
|
Polycythemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Tibetan medicine Triphala （THL）is a traditional national medicine, it plays a good role in anti-fatigue, antioxidation, prevention and treatment of polycythemia at high altitude.
|
31813891 |
2020 |
|
Hydrocephalus
|
0.010 |
Biomarker
|
disease |
BEFREE |
Even though this is a rare condition, we believe it is a safe and effective option to eliminate multiple shunts and/or to reduce the number of catheters needed to treat bilateral THH related to multi-septated hydrocephalus.
|
29557511 |
2018 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The designation high-grade B-cell lymphoma (HGBL) has been incorporated into the 2016 Revision of the WHO classification of lymphoid neoplasms and includes two types: (1) HGBL, not otherwise specified; and (2) HGBL with MYC and BCL2 and/or BCL6 rearrangements, also known as double or triple hit lymphoma (DHL/THL).
|
29989509 |
2018 |
|
High grade B-cell lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The designation high-grade B-cell lymphoma (HGBL) has been incorporated into the 2016 Revision of the WHO classification of lymphoid neoplasms and includes two types: (1) HGBL, not otherwise specified; and (2) HGBL with MYC and BCL2 and/or BCL6 rearrangements, also known as double or triple hit lymphoma (DHL/THL).
|
29989509 |
2018 |
|
High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements
|
0.010 |
Biomarker
|
disease |
BEFREE |
The designation high-grade B-cell lymphoma (HGBL) has been incorporated into the 2016 Revision of the WHO classification of lymphoid neoplasms and includes two types: (1) HGBL, not otherwise specified; and (2) HGBL with MYC and BCL2 and/or BCL6 rearrangements, also known as double or triple hit lymphoma (DHL/THL).
|
29989509 |
2018 |
|
Dysplastic Nevus
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
An unexpected finding in DNs was altered differentiation and activation of epidermal keratinocytes with increased expression of hair follicle-related molecules (keratin 25, trichohyalin, ribonuclease, RNase A family, 7) and inflammation-related molecules (S100A7, S100A8) at both genomic and protein levels.
|
27377700 |
2016 |
|
Trichodysplasia spinulosa
|
0.010 |
Biomarker
|
disease |
BEFREE |
Trichohyalin was particularly detected in the center of TS follicles that stained negative for Ki-67 and TSPyV LT-antigen.
|
25291363 |
2014 |
|
B-Cell Lymphomas
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Double-hit or triple-hit B-cell lymphomas (DHL and THL) are rare subtype lymphomas usually associated with poor prognosis.
|
23573328 |
2013 |
|
Molluscum Contagiosum
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression of keratohyalin-trichohyalin hybrid granules in molluscum contagiosum.
|
8850037 |
1996 |
|
Dermatologic disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Further, trichohyalin was also detected in scattered granular cells of a number of hyperplastic skin diseases.
|
8850037 |
1996 |
|
Skin Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We attempted to retrieve the trichohyalin antigenicity in formalin-fixed, paraffin-embedded biopsy specimens that included normal skin as well as skin tumors such as trichofolliculoma and pilotricoma.
|
8734653 |
1996 |
|
Pilomatrixoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Further, trichohyalin was found to be expressed not only in the secondary hair structure in trichofolliculoma but also in a certain cell lineage that differentiates to squamoid cells in pilomatricoma.
|
8734653 |
1996 |